| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53405565A>C | CA413252941 | SMC1A | c.1839T>G (p.Cys613Trp) c.1071T>G (p.Cys357Trp) n.1191T>G c.1773T>G (p.Cys591Trp) | |
| X | g.53405565A>G | CA516688159 | SMC1A | c.1839T>C (p.Cys613=) c.1071T>C (p.Cys357=) n.1191T>C c.1773T>C (p.Cys591=) | |
| X | g.53405565A>T | CA413252943 | SMC1A | c.1839T>A (p.Cys613Ter) c.1071T>A (p.Cys357Ter) n.1191T>A c.1773T>A (p.Cys591Ter) | |
| X | g.53405566C>A | CA413252945 | SMC1A | c.1838G>T (p.Cys613Phe) c.1070G>T (p.Cys357Phe) n.1190G>T c.1772G>T (p.Cys591Phe) | |
| X | g.53405566C>G | CA413252947 | SMC1A | c.1838G>C (p.Cys613Ser) c.1070G>C (p.Cys357Ser) n.1190G>C c.1772G>C (p.Cys591Ser) | |
| X | g.53405566C>T | CA413252949 | SMC1A | c.1838G>A (p.Cys613Tyr) c.1070G>A (p.Cys357Tyr) n.1190G>A c.1772G>A (p.Cys591Tyr) | |
| X | g.53405567A>C | CA413252951 | SMC1A | c.1837T>G (p.Cys613Gly) c.1069T>G (p.Cys357Gly) n.1189T>G c.1771T>G (p.Cys591Gly) | |
| X | g.53405567A>G | CA413252953 | SMC1A | c.1837T>C (p.Cys613Arg) c.1069T>C (p.Cys357Arg) n.1189T>C c.1771T>C (p.Cys591Arg) | |
| X | g.53405567A>T | CA413252954 | SMC1A | c.1837T>A (p.Cys613Ser) c.1069T>A (p.Cys357Ser) n.1189T>A c.1771T>A (p.Cys591Ser) | |
| X | g.53405568A>C | CA516688163 | SMC1A | c.1836T>G (p.Ala612=) c.1068T>G (p.Ala356=) n.1188T>G c.1770T>G (p.Ala590=) | |
| X | g.53405568A>G | CA516688164 | SMC1A | c.1836T>C (p.Ala612=) c.1068T>C (p.Ala356=) n.1188T>C c.1770T>C (p.Ala590=) | |
| X | g.53405568A>T | CA516688166 | SMC1A | c.1836T>A (p.Ala612=) c.1068T>A (p.Ala356=) n.1188T>A c.1770T>A (p.Ala590=) | |
| X | g.53405568_53405569insACAAAACCAAACACACCCAAC | CA2820946882 | SMC1A | c.1835_1836insGTTGGGTGTGTTTGGTTTTGT (p.Ala612_Cys613insLeuGlyValPheGlyPheVal) c.1067_1068insGTTGGGTGTGTTTGGTTTTGT (p.Ala356_Cys357insLeuGlyValPheGlyPheVal) n.1187_1188insGTTGGGTGTGTTTGGTTTTGT c.1769_1770insGTTGGGTGTGTTTGGTTTTGT (p.Ala590_Cys591insLeuGlyValPheGlyPheVal) | |
| X | g.53405569G>A | CA413252956 | SMC1A | c.1835C>T (p.Ala612Val) c.1067C>T (p.Ala356Val) n.1187C>T c.1769C>T (p.Ala590Val) | |
| X | g.53405569G>C | CA413252958 | SMC1A | c.1835C>G (p.Ala612Gly) c.1067C>G (p.Ala356Gly) n.1187C>G c.1769C>G (p.Ala590Gly) | |
| X | g.53405569G>T | CA413252960 | SMC1A | c.1835C>A (p.Ala612Asp) c.1067C>A (p.Ala356Asp) n.1187C>A c.1769C>A (p.Ala590Asp) | |
| X | g.53405570C>A | CA413252961 | SMC1A | c.1834G>T (p.Ala612Ser) c.1066G>T (p.Ala356Ser) n.1186G>T c.1768G>T (p.Ala590Ser) | |
| X | g.53405570C= | CA2429825324 | SMC1A | c.1834G= (p.Ala612=) c.1066G= (p.Ala356=) n.1186G= c.1768G= (p.Ala590=) | |
| X | g.53405570C>G | CA413252963 | SMC1A | c.1834G>C (p.Ala612Pro) c.1066G>C (p.Ala356Pro) n.1186G>C c.1768G>C (p.Ala590Pro) | |
| X | g.53405570C>T | CA234957 | SMC1A | c.1834G>A (p.Ala612Thr) c.1066G>A (p.Ala356Thr) n.1186G>A c.1768G>A (p.Ala590Thr) | ClinVar dbSNP |
| X | g.53405571A>C | CA413252966 | SMC1A | c.1833T>G (p.Tyr611Ter) c.1065T>G (p.Tyr355Ter) n.1185T>G c.1767T>G (p.Tyr589Ter) | |
| X | g.53405571A>G | CA516688173 | SMC1A | c.1833T>C (p.Tyr611=) c.1065T>C (p.Tyr355=) n.1185T>C c.1767T>C (p.Tyr589=) | |
| X | g.53405571A>T | CA413252967 | SMC1A | c.1833T>A (p.Tyr611Ter) c.1065T>A (p.Tyr355Ter) n.1185T>A c.1767T>A (p.Tyr589Ter) | |
| X | g.53405572T>A | CA413252969 | SMC1A | c.1832A>T (p.Tyr611Phe) c.1064A>T (p.Tyr355Phe) n.1184A>T c.1766A>T (p.Tyr589Phe) | |
| X | g.53405572T>C | CA413252970 | SMC1A | c.1832A>G (p.Tyr611Cys) c.1064A>G (p.Tyr355Cys) n.1184A>G c.1766A>G (p.Tyr589Cys) | |
| X | g.53405572T>G | CA413252971 | SMC1A | c.1832A>C (p.Tyr611Ser) c.1064A>C (p.Tyr355Ser) n.1184A>C c.1766A>C (p.Tyr589Ser) | |
| X | g.53405572dup | CA2740092158 | SMC1A | c.1832dup (p.Tyr611Ter) c.1064dup (p.Tyr355Ter) n.1184dup c.1766dup (p.Tyr589Ter) | ClinVar |
| X | g.53405573A>C | CA413252973 | SMC1A | c.1831T>G (p.Tyr611Asp) c.1063T>G (p.Tyr355Asp) n.1183T>G c.1765T>G (p.Tyr589Asp) | |
| X | g.53405573A>G | CA413252975 | SMC1A | c.1831T>C (p.Tyr611His) c.1063T>C (p.Tyr355His) n.1183T>C c.1765T>C (p.Tyr589His) | |
| X | g.53405573A>T | CA413252976 | SMC1A | c.1831T>A (p.Tyr611Asn) c.1063T>A (p.Tyr355Asn) n.1183T>A c.1765T>A (p.Tyr589Asn) | |
| X | g.53405574C>A | CA413252977 | SMC1A | c.1830G>T (p.Gln610His) c.1062G>T (p.Gln354His) n.1182G>T c.1764G>T (p.Gln588His) | |
| X | g.53405574C= | CA2429825325 | SMC1A | c.1830G= (p.Gln610=) c.1062G= (p.Gln354=) n.1182G= c.1764G= (p.Gln588=) | |
| X | g.53405574C>G | CA413252978 | SMC1A | c.1830G>C (p.Gln610His) c.1062G>C (p.Gln354His) n.1182G>C c.1764G>C (p.Gln588His) | |
| X | g.53405574C>T | CA516688179 | SMC1A | c.1830G>A (p.Gln610=) c.1062G>A (p.Gln354=) n.1182G>A c.1764G>A (p.Gln588=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.53405575T>A | CA413252980 | SMC1A | c.1829A>T (p.Gln610Leu) c.1061A>T (p.Gln354Leu) n.1181A>T c.1763A>T (p.Gln588Leu) | |
| X | g.53405575T>C | CA413252981 | SMC1A | c.1829A>G (p.Gln610Arg) c.1061A>G (p.Gln354Arg) n.1181A>G c.1763A>G (p.Gln588Arg) | ClinVar |
| X | g.53405575T>G | CA413252983 | SMC1A | c.1829A>C (p.Gln610Pro) c.1061A>C (p.Gln354Pro) n.1181A>C c.1763A>C (p.Gln588Pro) | |
| X | g.53405576G>A | CA413252987 | SMC1A | c.1828C>T (p.Gln610Ter) c.1060C>T (p.Gln354Ter) n.1180C>T c.1762C>T (p.Gln588Ter) | |
| X | g.53405576G>C | CA413252988 | SMC1A | c.1828C>G (p.Gln610Glu) c.1060C>G (p.Gln354Glu) n.1180C>G c.1762C>G (p.Gln588Glu) | |
| X | g.53405576G>T | CA413252985 | SMC1A | c.1828C>A (p.Gln610Lys) c.1060C>A (p.Gln354Lys) n.1180C>A c.1762C>A (p.Gln588Lys) | |
| X | g.53405577C>A | CA516688182 | SMC1A | c.1827G>T (p.Leu609=) c.1059G>T (p.Leu353=) n.1179G>T c.1761G>T (p.Leu587=) | |
| X | g.53405577C>G | CA516688184 | SMC1A | c.1827G>C (p.Leu609=) c.1059G>C (p.Leu353=) n.1179G>C c.1761G>C (p.Leu587=) | |
| X | g.53405577C>T | CA516688183 | SMC1A | c.1827G>A (p.Leu609=) c.1059G>A (p.Leu353=) n.1179G>A c.1761G>A (p.Leu587=) | gnomAD v4 |
| X | g.53405578A>C | CA413252991 | SMC1A | c.1826T>G (p.Leu609Arg) c.1058T>G (p.Leu353Arg) n.1178T>G c.1760T>G (p.Leu587Arg) | |
| X | g.53405578A>G | CA413252992 | SMC1A | c.1826T>C (p.Leu609Pro) c.1058T>C (p.Leu353Pro) n.1178T>C c.1760T>C (p.Leu587Pro) | |
| X | g.53405578A>T | CA413252994 | SMC1A | c.1826T>A (p.Leu609Gln) c.1058T>A (p.Leu353Gln) n.1178T>A c.1760T>A (p.Leu587Gln) | |
| X | g.53405579G>A | CA516688188 | SMC1A | c.1825C>T (p.Leu609=) c.1057C>T (p.Leu353=) n.1177C>T c.1759C>T (p.Leu587=) | |
| X | g.53405579G>C | CA413252995 | SMC1A | c.1825C>G (p.Leu609Val) c.1057C>G (p.Leu353Val) n.1177C>G c.1759C>G (p.Leu587Val) | |
| X | g.53405579G>T | CA413252997 | SMC1A | c.1825C>A (p.Leu609Met) c.1057C>A (p.Leu353Met) n.1177C>A c.1759C>A (p.Leu587Met) | |
| X | g.53405580G>A | CA516688192 | SMC1A | c.1824C>T (p.Ala608=) c.1056C>T (p.Ala352=) n.1176C>T c.1758C>T (p.Ala586=) | gnomAD v4 |
| X | g.53405580G>C | CA516688193 | SMC1A | c.1824C>G (p.Ala608=) c.1056C>G (p.Ala352=) n.1176C>G c.1758C>G (p.Ala586=) | |
| X | g.53405580G>T | CA516688194 | SMC1A | c.1824C>A (p.Ala608=) c.1056C>A (p.Ala352=) n.1176C>A c.1758C>A (p.Ala586=) | |
| X | g.53405581G>A | CA413252999 | SMC1A | c.1823C>T (p.Ala608Val) c.1055C>T (p.Ala352Val) n.1175C>T c.1757C>T (p.Ala586Val) | |
| X | g.53405581G>C | CA413253001 | SMC1A | c.1823C>G (p.Ala608Gly) c.1055C>G (p.Ala352Gly) n.1175C>G c.1757C>G (p.Ala586Gly) | |
| X | g.53405581G>T | CA413253002 | SMC1A | c.1823C>A (p.Ala608Asp) c.1055C>A (p.Ala352Asp) n.1175C>A c.1757C>A (p.Ala586Asp) | |
| X | g.53405582C>A | CA413253004 | SMC1A | c.1822G>T (p.Ala608Ser) c.1054G>T (p.Ala352Ser) n.1174G>T c.1756G>T (p.Ala586Ser) | |
| X | g.53405582C>G | CA413253005 | SMC1A | c.1822G>C (p.Ala608Pro) c.1054G>C (p.Ala352Pro) n.1174G>C c.1756G>C (p.Ala586Pro) | |
| X | g.53405582C>T | CA413253006 | SMC1A | c.1822G>A (p.Ala608Thr) c.1054G>A (p.Ala352Thr) n.1174G>A c.1756G>A (p.Ala586Thr) | |
| X | g.53405583C>A | CA413253008 | SMC1A | c.1821G>T (p.Lys607Asn) c.1053G>T (p.Lys351Asn) n.1173G>T c.1755G>T (p.Lys585Asn) | |
| X | g.53405583C= | CA2429825326 | SMC1A | c.1821G= (p.Lys607=) c.1053G= (p.Lys351=) n.1173G= c.1755G= (p.Lys585=) | |
| X | g.53405583C>G | CA413253009 | SMC1A | c.1821G>C (p.Lys607Asn) c.1053G>C (p.Lys351Asn) n.1173G>C c.1755G>C (p.Lys585Asn) | dbSNP |
| X | g.53405583C>T | CA516688198 | SMC1A | c.1821G>A (p.Lys607=) c.1053G>A (p.Lys351=) n.1173G>A c.1755G>A (p.Lys585=) | |
| X | g.53405584T>A | CA413253014 | SMC1A | c.1820A>T (p.Lys607Met) c.1052A>T (p.Lys351Met) n.1172A>T c.1754A>T (p.Lys585Met) | |
| X | g.53405584T>C | CA413253012 | SMC1A | c.1820A>G (p.Lys607Arg) c.1052A>G (p.Lys351Arg) n.1172A>G c.1754A>G (p.Lys585Arg) | |
| X | g.53405584T>G | CA413253011 | SMC1A | c.1820A>C (p.Lys607Thr) c.1052A>C (p.Lys351Thr) n.1172A>C c.1754A>C (p.Lys585Thr) | |
| X | g.53405585T>A | CA413253015 | SMC1A | c.1819A>T (p.Lys607Ter) c.1051A>T (p.Lys351Ter) n.1171A>T c.1753A>T (p.Lys585Ter) | |
| X | g.53405585T>C | CA413253016 | SMC1A | c.1819A>G (p.Lys607Glu) c.1051A>G (p.Lys351Glu) n.1171A>G c.1753A>G (p.Lys585Glu) | |
| X | g.53405585T>G | CA413253017 | SMC1A | c.1819A>C (p.Lys607Gln) c.1051A>C (p.Lys351Gln) n.1171A>C c.1753A>C (p.Lys585Gln) | |
| X | g.53405586T>A | CA413253019 | SMC1A | c.1818A>T (p.Lys606Asn) c.1050A>T (p.Lys350Asn) n.1170A>T c.1752A>T (p.Lys584Asn) | |
| X | g.53405586T>C | CA516688205 | SMC1A | c.1818A>G (p.Lys606=) c.1050A>G (p.Lys350=) n.1170A>G c.1752A>G (p.Lys584=) | |
| X | g.53405586T>G | CA413253020 | SMC1A | c.1818A>C (p.Lys606Asn) c.1050A>C (p.Lys350Asn) n.1170A>C c.1752A>C (p.Lys584Asn) | |
| X | g.53405587T>A | CA413253021 | SMC1A | c.1817A>T (p.Lys606Ile) c.1049A>T (p.Lys350Ile) n.1169A>T c.1751A>T (p.Lys584Ile) | |
| X | g.53405587T>C | CA413253023 | SMC1A | c.1817A>G (p.Lys606Arg) c.1049A>G (p.Lys350Arg) n.1169A>G c.1751A>G (p.Lys584Arg) | |
| X | g.53405587T>G | CA413253025 | SMC1A | c.1817A>C (p.Lys606Thr) c.1049A>C (p.Lys350Thr) n.1169A>C c.1751A>C (p.Lys584Thr) | |
| X | g.53405588T>A | CA413253026 | SMC1A | c.1816A>T (p.Lys606Ter) c.1048A>T (p.Lys350Ter) n.1168A>T c.1750A>T (p.Lys584Ter) | |
| X | g.53405588T>C | CA413253027 | SMC1A | c.1816A>G (p.Lys606Glu) c.1048A>G (p.Lys350Glu) n.1168A>G c.1750A>G (p.Lys584Glu) | |
| X | g.53405588T>G | CA413253029 | SMC1A | c.1816A>C (p.Lys606Gln) c.1048A>C (p.Lys350Gln) n.1168A>C c.1750A>C (p.Lys584Gln) | |
| X | g.53405589G>A | CA516688209 | SMC1A | c.1815C>T (p.Ile605=) c.1047C>T (p.Ile349=) n.1167C>T c.1749C>T (p.Ile583=) | |
| X | g.53405589G>C | CA413253031 | SMC1A | c.1815C>G (p.Ile605Met) c.1047C>G (p.Ile349Met) n.1167C>G c.1749C>G (p.Ile583Met) | |
| X | g.53405589G>T | CA516688210 | SMC1A | c.1815C>A (p.Ile605=) c.1047C>A (p.Ile349=) n.1167C>A c.1749C>A (p.Ile583=) | |
| X | g.53405590A>C | CA413253036 | SMC1A | c.1814T>G (p.Ile605Ser) c.1046T>G (p.Ile349Ser) n.1166T>G c.1748T>G (p.Ile583Ser) | |
| X | g.53405590A>G | CA413253034 | SMC1A | c.1814T>C (p.Ile605Thr) c.1046T>C (p.Ile349Thr) n.1166T>C c.1748T>C (p.Ile583Thr) | |
| X | g.53405590A>T | CA413253033 | SMC1A | c.1814T>A (p.Ile605Asn) c.1046T>A (p.Ile349Asn) n.1166T>A c.1748T>A (p.Ile583Asn) | |
| X | g.53405592_53405593del | CA2580612341 | SMC1A | c.1813_1814del (p.Ile605GlnfsTer15) c.1045_1046del (p.Ile349GlnfsTer15) n.1165_1166del c.1747_1748del (p.Ile583GlnfsTer15) | ClinVar dbSNP |
| X | g.53405591T>A | CA413253038 | SMC1A | c.1813A>T (p.Ile605Phe) c.1045A>T (p.Ile349Phe) n.1165A>T c.1747A>T (p.Ile583Phe) | |
| X | g.53405591T>C | CA413253041 | SMC1A | c.1813A>G (p.Ile605Val) c.1045A>G (p.Ile349Val) n.1165A>G c.1747A>G (p.Ile583Val) | |
| X | g.53405591T>G | CA413253040 | SMC1A | c.1813A>C (p.Ile605Leu) c.1045A>C (p.Ile349Leu) n.1165A>C c.1747A>C (p.Ile583Leu) | |
| X | g.53405592A= | CA2429825327 | SMC1A | c.1812T= (p.His604=) c.1044T= (p.His348=) n.1164T= c.1746T= (p.His582=) | |
| X | g.53405592A>C | CA413253042 | SMC1A | c.1812T>G (p.His604Gln) c.1044T>G (p.His348Gln) n.1164T>G c.1746T>G (p.His582Gln) | |
| X | g.53405592A>G | CA516688216 | SMC1A | c.1812T>C (p.His604=) c.1044T>C (p.His348=) n.1164T>C c.1746T>C (p.His582=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53405592A>T | CA413253043 | SMC1A | c.1812T>A (p.His604Gln) c.1044T>A (p.His348Gln) n.1164T>A c.1746T>A (p.His582Gln) | |
| X | g.53405593T>A | CA413253045 | SMC1A | c.1811A>T (p.His604Leu) c.1043A>T (p.His348Leu) n.1163A>T c.1745A>T (p.His582Leu) | |
| X | g.53405593T>C | CA413253047 | SMC1A | c.1811A>G (p.His604Arg) c.1043A>G (p.His348Arg) n.1163A>G c.1745A>G (p.His582Arg) | |
| X | g.53405593T>G | CA413253049 | SMC1A | c.1811A>C (p.His604Pro) c.1043A>C (p.His348Pro) n.1163A>C c.1745A>C (p.His582Pro) | |
| X | g.53405594G>A | CA413253051 | SMC1A | c.1810C>T (p.His604Tyr) c.1042C>T (p.His348Tyr) n.1162C>T c.1744C>T (p.His582Tyr) | |
| X | g.53405594G>C | CA413253053 | SMC1A | c.1810C>G (p.His604Asp) c.1042C>G (p.His348Asp) n.1162C>G c.1744C>G (p.His582Asp) | |
| X | g.53405594G>T | CA413253055 | SMC1A | c.1810C>A (p.His604Asn) c.1042C>A (p.His348Asn) n.1162C>A c.1744C>A (p.His582Asn) | |
| X | g.53405595A= | CA2429825328 | SMC1A | c.1809T= (p.Pro603=) c.1041T= (p.Pro347=) n.1161T= c.1743T= (p.Pro581=) | |
| X | g.53405595A>C | CA516688221 | SMC1A | c.1809T>G (p.Pro603=) c.1041T>G (p.Pro347=) n.1161T>G c.1743T>G (p.Pro581=) | |
| X | g.53405595A>G | CA516688222 | SMC1A | c.1809T>C (p.Pro603=) c.1041T>C (p.Pro347=) n.1161T>C c.1743T>C (p.Pro581=) | |
| X | g.53405595A>T | CA10420517 | SMC1A | c.1809T>A (p.Pro603=) c.1041T>A (p.Pro347=) n.1161T>A c.1743T>A (p.Pro581=) | dbSNP ExAC gnomAD v2 |
| X | g.53405596G>A | CA413253056 | SMC1A | c.1808C>T (p.Pro603Leu) c.1040C>T (p.Pro347Leu) n.1160C>T c.1742C>T (p.Pro581Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.53405596G>C | CA413253058 | SMC1A | c.1808C>G (p.Pro603Arg) c.1040C>G (p.Pro347Arg) n.1160C>G c.1742C>G (p.Pro581Arg) | |
| X | g.53405596G= | CA2429825329 | SMC1A | c.1808C= (p.Pro603=) c.1040C= (p.Pro347=) n.1160C= c.1742C= (p.Pro581=) | |
| X | g.53405596G>T | CA413253059 | SMC1A | c.1808C>A (p.Pro603His) c.1040C>A (p.Pro347His) n.1160C>A c.1742C>A (p.Pro581His) | |
| X | g.53405597G>A | CA413253064 | SMC1A | c.1807C>T (p.Pro603Ser) c.1039C>T (p.Pro347Ser) n.1159C>T c.1741C>T (p.Pro581Ser) | |
| X | g.53405597G>C | CA413253061 | SMC1A | c.1807C>G (p.Pro603Ala) c.1039C>G (p.Pro347Ala) n.1159C>G c.1741C>G (p.Pro581Ala) | |
| X | g.53405597G>T | CA413253062 | SMC1A | c.1807C>A (p.Pro603Thr) c.1039C>A (p.Pro347Thr) n.1159C>A c.1741C>A (p.Pro581Thr) | |
| X | g.53405598T>A | CA516688227 | SMC1A | c.1806A>T (p.Pro602=) c.1038A>T (p.Pro346=) n.1158A>T c.1740A>T (p.Pro580=) | gnomAD v4 |
| X | g.53405598T>C | CA516688228 | SMC1A | c.1806A>G (p.Pro602=) c.1038A>G (p.Pro346=) n.1158A>G c.1740A>G (p.Pro580=) | dbSNP gnomAD v4 |
| X | g.53405598T>G | CA516688229 | SMC1A | c.1806A>C (p.Pro602=) c.1038A>C (p.Pro346=) n.1158A>C c.1740A>C (p.Pro580=) | |
| X | g.53405598T= | CA2429825330 | SMC1A | c.1806A= (p.Pro602=) c.1038A= (p.Pro346=) n.1158A= c.1740A= (p.Pro580=) | |
| X | g.53405599G>A | CA413253065 | SMC1A | c.1805C>T (p.Pro602Leu) c.1037C>T (p.Pro346Leu) n.1157C>T c.1739C>T (p.Pro580Leu) | |
| X | g.53405599G>C | CA413253067 | SMC1A | c.1805C>G (p.Pro602Arg) c.1037C>G (p.Pro346Arg) n.1157C>G c.1739C>G (p.Pro580Arg) | |
| X | g.53405599G>T | CA413253069 | SMC1A | c.1805C>A (p.Pro602Gln) c.1037C>A (p.Pro346Gln) n.1157C>A c.1739C>A (p.Pro580Gln) | COSMIC |
| X | g.53405600G>A | CA413253070 | SMC1A | c.1804C>T (p.Pro602Ser) c.1036C>T (p.Pro346Ser) n.1156C>T c.1738C>T (p.Pro580Ser) | |
| X | g.53405600G>C | CA413253071 | SMC1A | c.1804C>G (p.Pro602Ala) c.1036C>G (p.Pro346Ala) n.1156C>G c.1738C>G (p.Pro580Ala) | |
| X | g.53405600G>T | CA413253072 | SMC1A | c.1804C>A (p.Pro602Thr) c.1036C>A (p.Pro346Thr) n.1156C>A c.1738C>A (p.Pro580Thr) | |
| X | g.53405601C>A | CA413253074 | SMC1A | c.1803G>T (p.Glu601Asp) c.1035G>T (p.Glu345Asp) n.1155G>T c.1737G>T (p.Glu579Asp) | |
| X | g.53405601C>G | CA413253076 | SMC1A | c.1803G>C (p.Glu601Asp) c.1035G>C (p.Glu345Asp) n.1155G>C c.1737G>C (p.Glu579Asp) | gnomAD v4 |
| X | g.53405601C>T | CA516688236 | SMC1A | c.1803G>A (p.Glu601=) c.1035G>A (p.Glu345=) n.1155G>A c.1737G>A (p.Glu579=) | |
| X | g.53405602T>A | CA413253078 | SMC1A | c.1802A>T (p.Glu601Val) c.1034A>T (p.Glu345Val) n.1154A>T c.1736A>T (p.Glu579Val) | |
| X | g.53405602T>C | CA413253080 | SMC1A | c.1802A>G (p.Glu601Gly) c.1034A>G (p.Glu345Gly) n.1154A>G c.1736A>G (p.Glu579Gly) | |
| X | g.53405602T>G | CA413253084 | SMC1A | c.1802A>C (p.Glu601Ala) c.1034A>C (p.Glu345Ala) n.1154A>C c.1736A>C (p.Glu579Ala) | |
| X | g.53405603C>A | CA413253089 | SMC1A | c.1801G>T (p.Glu601Ter) c.1033G>T (p.Glu345Ter) n.1153G>T c.1735G>T (p.Glu579Ter) | |
| X | g.53405603C>G | CA413253087 | SMC1A | c.1801G>C (p.Glu601Gln) c.1033G>C (p.Glu345Gln) n.1153G>C c.1735G>C (p.Glu579Gln) | |
| X | g.53405603C>T | CA413253086 | SMC1A | c.1801G>A (p.Glu601Lys) c.1033G>A (p.Glu345Lys) n.1153G>A c.1735G>A (p.Glu579Lys) | |
| X | g.53405604A>C | CA413253092 | SMC1A | c.1800T>G (p.Tyr600Ter) c.1032T>G (p.Tyr344Ter) n.1152T>G c.1734T>G (p.Tyr578Ter) | gnomAD v4 |
| X | g.53405604A>G | CA516688244 | SMC1A | c.1800T>C (p.Tyr600=) c.1032T>C (p.Tyr344=) n.1152T>C c.1734T>C (p.Tyr578=) | |
| X | g.53405604A>T | CA413253093 | SMC1A | c.1800T>A (p.Tyr600Ter) c.1032T>A (p.Tyr344Ter) n.1152T>A c.1734T>A (p.Tyr578Ter) | |
| X | g.53405605T>A | CA413253095 | SMC1A | c.1799A>T (p.Tyr600Phe) c.1031A>T (p.Tyr344Phe) n.1151A>T c.1733A>T (p.Tyr578Phe) | ClinVar |
| X | g.53405605T>C | CA413253097 | SMC1A | c.1799A>G (p.Tyr600Cys) c.1031A>G (p.Tyr344Cys) n.1151A>G c.1733A>G (p.Tyr578Cys) | |
| X | g.53405605T>G | CA413253099 | SMC1A | c.1799A>C (p.Tyr600Ser) c.1031A>C (p.Tyr344Ser) n.1151A>C c.1733A>C (p.Tyr578Ser) | |
| X | g.53405606A>C | CA413253101 | SMC1A | c.1798T>G (p.Tyr600Asp) c.1030T>G (p.Tyr344Asp) n.1150T>G c.1732T>G (p.Tyr578Asp) | |
| X | g.53405606A>G | CA413253103 | SMC1A | c.1798T>C (p.Tyr600His) c.1030T>C (p.Tyr344His) n.1150T>C c.1732T>C (p.Tyr578His) | |
| X | g.53405606A>T | CA413253105 | SMC1A | c.1798T>A (p.Tyr600Asn) c.1030T>A (p.Tyr344Asn) n.1150T>A c.1732T>A (p.Tyr578Asn) | |
| X | g.53405607G>A | CA516688249 | SMC1A | c.1797C>T (p.Arg599=) c.1029C>T (p.Arg343=) n.1149C>T c.1731C>T (p.Arg577=) | |
| X | g.53405607G>C | CA516688254 | SMC1A | c.1797C>G (p.Arg599=) c.1029C>G (p.Arg343=) n.1149C>G c.1731C>G (p.Arg577=) | |
| X | g.53405607G>T | CA516688252 | SMC1A | c.1797C>A (p.Arg599=) c.1029C>A (p.Arg343=) n.1149C>A c.1731C>A (p.Arg577=) | |
| X | g.53405608C>A | CA413253107 | SMC1A | c.1796G>T (p.Arg599Leu) c.1028G>T (p.Arg343Leu) n.1148G>T c.1730G>T (p.Arg577Leu) | |
| X | g.53405608C>G | CA413253109 | SMC1A | c.1796G>C (p.Arg599Pro) c.1028G>C (p.Arg343Pro) n.1148G>C c.1730G>C (p.Arg577Pro) | |
| X | g.53405608C>T | CA413253110 | SMC1A | c.1796G>A (p.Arg599His) c.1028G>A (p.Arg343His) n.1148G>A c.1730G>A (p.Arg577His) | |
| X | g.53405609G>A | CA413253113 | SMC1A | c.1795C>T (p.Arg599Cys) c.1027C>T (p.Arg343Cys) n.1147C>T c.1729C>T (p.Arg577Cys) | gnomAD v4 |
| X | g.53405609G>C | CA413253114 | SMC1A | c.1795C>G (p.Arg599Gly) c.1027C>G (p.Arg343Gly) n.1147C>G c.1729C>G (p.Arg577Gly) | |
| X | g.53405609G>T | CA413253115 | SMC1A | c.1795C>A (p.Arg599Ser) c.1027C>A (p.Arg343Ser) n.1147C>A c.1729C>A (p.Arg577Ser) | |
| X | g.53405610A>C | CA413253117 | SMC1A | c.1794T>G (p.Ile598Met) c.1026T>G (p.Ile342Met) n.1146T>G c.1728T>G (p.Ile576Met) | |
| X | g.53405610A>G | CA516688259 | SMC1A | c.1794T>C (p.Ile598=) c.1026T>C (p.Ile342=) n.1146T>C c.1728T>C (p.Ile576=) | |
| X | g.53405610A>T | CA516688260 | SMC1A | c.1794T>A (p.Ile598=) c.1026T>A (p.Ile342=) n.1146T>A c.1728T>A (p.Ile576=) | |
| X | g.53405611A>C | CA413253119 | SMC1A | c.1793T>G (p.Ile598Ser) c.1025T>G (p.Ile342Ser) n.1145T>G c.1727T>G (p.Ile576Ser) | |
| X | g.53405611A>G | CA413253121 | SMC1A | c.1793T>C (p.Ile598Thr) c.1025T>C (p.Ile342Thr) n.1145T>C c.1727T>C (p.Ile576Thr) | |
| X | g.53405611A>T | CA413253122 | SMC1A | c.1793T>A (p.Ile598Asn) c.1025T>A (p.Ile342Asn) n.1145T>A c.1727T>A (p.Ile576Asn) | |
| X | g.53405612T>A | CA413253125 | SMC1A | c.1792A>T (p.Ile598Phe) c.1024A>T (p.Ile342Phe) n.1144A>T c.1726A>T (p.Ile576Phe) | |
| X | g.53405612T>C | CA413253127 | SMC1A | c.1792A>G (p.Ile598Val) c.1024A>G (p.Ile342Val) n.1144A>G c.1726A>G (p.Ile576Val) | |
| X | g.53405612T>G | CA413253128 | SMC1A | c.1792A>C (p.Ile598Leu) c.1024A>C (p.Ile342Leu) n.1144A>C c.1726A>C (p.Ile576Leu) | |
| X | g.53405613C>A | CA516688264 | SMC1A | c.1791G>T (p.Val597=) c.1023G>T (p.Val341=) n.1143G>T c.1725G>T (p.Val575=) | |
| X | g.53405613C>G | CA516688265 | SMC1A | c.1791G>C (p.Val597=) c.1023G>C (p.Val341=) n.1143G>C c.1725G>C (p.Val575=) | |
| X | g.53405613C>T | CA516688266 | SMC1A | c.1791G>A (p.Val597=) c.1023G>A (p.Val341=) n.1143G>A c.1725G>A (p.Val575=) | COSMIC |
| X | g.53405614A>C | CA413253131 | SMC1A | c.1790T>G (p.Val597Gly) c.1022T>G (p.Val341Gly) n.1142T>G c.1724T>G (p.Val575Gly) | |
| X | g.53405614A>G | CA413253133 | SMC1A | c.1790T>C (p.Val597Ala) c.1022T>C (p.Val341Ala) n.1142T>C c.1724T>C (p.Val575Ala) | |
| X | g.53405614A>T | CA413253134 | SMC1A | c.1790T>A (p.Val597Glu) c.1022T>A (p.Val341Glu) n.1142T>A c.1724T>A (p.Val575Glu) | |
| X | g.53405615C>A | CA413253137 | SMC1A | c.1789G>T (p.Val597Leu) c.1021G>T (p.Val341Leu) n.1141G>T c.1723G>T (p.Val575Leu) | |
| X | g.53405615C= | CA2429825332 | SMC1A | c.1789G= (p.Val597=) c.1021G= (p.Val341=) n.1141G= c.1723G= (p.Val575=) | |
| X | g.53405615C>G | CA413253138 | SMC1A | c.1789G>C (p.Val597Leu) c.1021G>C (p.Val341Leu) n.1141G>C c.1723G>C (p.Val575Leu) | |
| X | g.53405615C>T | CA413253140 | SMC1A | c.1789G>A (p.Val597Met) c.1021G>A (p.Val341Met) n.1141G>A c.1723G>A (p.Val575Met) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53405615_53405619delinsCATCA | CA2429825331 | SMC1A | c.1785_1789delinsTGATG (p.Ile595=) c.1017_1021delinsTGATG (p.Ile339=) n.1137_1141delinsTGATG c.1719_1723delinsTGATG (p.Ile573=) | |
| X | g.53405616A= | CA2429825333 | SMC1A | c.1788T= (p.Asp596=) c.1020T= (p.Asp340=) n.1140T= c.1722T= (p.Asp574=) | |
| X | g.53405616A>C | CA413253142 | SMC1A | c.1788T>G (p.Asp596Glu) c.1020T>G (p.Asp340Glu) n.1140T>G c.1722T>G (p.Asp574Glu) | |
| X | g.53405616A>G | CA10420518 | SMC1A | c.1788T>C (p.Asp596=) c.1020T>C (p.Asp340=) n.1140T>C c.1722T>C (p.Asp574=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53405616A>T | CA413253144 | SMC1A | c.1788T>A (p.Asp596Glu) c.1020T>A (p.Asp340Glu) n.1140T>A c.1722T>A (p.Asp574Glu) | |
| X | g.53405620_53405623del | CA915951068 | SMC1A | c.1785_1788del (p.Ile595MetfsTer2) c.1017_1020del (p.Ile339MetfsTer2) n.1137_1140del c.1719_1722del (p.Ile573MetfsTer2) | ClinVar dbSNP |
| X | g.53405617T>A | CA413253148 | SMC1A | c.1787A>T (p.Asp596Val) c.1019A>T (p.Asp340Val) n.1139A>T c.1721A>T (p.Asp574Val) | |
| X | g.53405617T>C | CA413253151 | SMC1A | c.1787A>G (p.Asp596Gly) c.1019A>G (p.Asp340Gly) n.1139A>G c.1721A>G (p.Asp574Gly) | |
| X | g.53405617T>G | CA413253149 | SMC1A | c.1787A>C (p.Asp596Ala) c.1019A>C (p.Asp340Ala) n.1139A>C c.1721A>C (p.Asp574Ala) | |
| X | g.53405618C>A | CA413253152 | SMC1A | c.1786G>T (p.Asp596Tyr) c.1018G>T (p.Asp340Tyr) n.1138G>T c.1720G>T (p.Asp574Tyr) | |
| X | g.53405618C>G | CA413253156 | SMC1A | c.1786G>C (p.Asp596His) c.1018G>C (p.Asp340His) n.1138G>C c.1720G>C (p.Asp574His) | |
| X | g.53405618C>T | CA413253154 | SMC1A | c.1786G>A (p.Asp596Asn) c.1018G>A (p.Asp340Asn) n.1138G>A c.1720G>A (p.Asp574Asn) | |
| X | g.53405619A>C | CA413253158 | SMC1A | c.1785T>G (p.Ile595Met) c.1017T>G (p.Ile339Met) n.1137T>G c.1719T>G (p.Ile573Met) | |
| X | g.53405619A>G | CA516688277 | SMC1A | c.1785T>C (p.Ile595=) c.1017T>C (p.Ile339=) n.1137T>C c.1719T>C (p.Ile573=) | |
| X | g.53405619A>T | CA516688279 | SMC1A | c.1785T>A (p.Ile595=) c.1017T>A (p.Ile339=) n.1137T>A c.1719T>A (p.Ile573=) | |
| X | g.53405620A>C | CA413253164 | SMC1A | c.1784T>G (p.Ile595Ser) c.1016T>G (p.Ile339Ser) n.1136T>G c.1718T>G (p.Ile573Ser) | |
| X | g.53405620A>G | CA413253160 | SMC1A | c.1784T>C (p.Ile595Thr) c.1016T>C (p.Ile339Thr) n.1136T>C c.1718T>C (p.Ile573Thr) | |
| X | g.53405620A>T | CA413253162 | SMC1A | c.1784T>A (p.Ile595Asn) c.1016T>A (p.Ile339Asn) n.1136T>A c.1718T>A (p.Ile573Asn) | |
| X | g.53405621T>A | CA413253166 | SMC1A | c.1783A>T (p.Ile595Phe) c.1015A>T (p.Ile339Phe) n.1135A>T c.1717A>T (p.Ile573Phe) | |
| X | g.53405621T>C | CA413253168 | SMC1A | c.1783A>G (p.Ile595Val) c.1015A>G (p.Ile339Val) n.1135A>G c.1717A>G (p.Ile573Val) | |
| X | g.53405621T>G | CA413253170 | SMC1A | c.1783A>C (p.Ile595Leu) c.1015A>C (p.Ile339Leu) n.1135A>C c.1717A>C (p.Ile573Leu) | |
| X | g.53405622C>A | CA516688283 | SMC1A | c.1782G>T (p.Val594=) c.1014G>T (p.Val338=) n.1134G>T c.1716G>T (p.Val572=) | |
| X | g.53405622C= | CA2429825334 | SMC1A | c.1782G= (p.Val594=) c.1014G= (p.Val338=) n.1134G= c.1716G= (p.Val572=) | |
| X | g.53405622C>G | CA516688284 | SMC1A | c.1782G>C (p.Val594=) c.1014G>C (p.Val338=) n.1134G>C c.1716G>C (p.Val572=) | gnomAD v4 |
| X | g.53405622C>T | CA516688285 | SMC1A | c.1782G>A (p.Val594=) c.1014G>A (p.Val338=) n.1134G>A c.1716G>A (p.Val572=) | ClinVar dbSNP gnomAD v2 |
| X | g.53405623A>C | CA413253172 | SMC1A | c.1781T>G (p.Val594Gly) c.1013T>G (p.Val338Gly) n.1133T>G c.1715T>G (p.Val572Gly) | |
| X | g.53405623A>G | CA413253174 | SMC1A | c.1781T>C (p.Val594Ala) c.1013T>C (p.Val338Ala) n.1133T>C c.1715T>C (p.Val572Ala) | COSMIC |
| X | g.53405623A>T | CA413253176 | SMC1A | c.1781T>A (p.Val594Glu) c.1013T>A (p.Val338Glu) n.1133T>A c.1715T>A (p.Val572Glu) | |
| X | g.53405624C>A | CA413253178 | SMC1A | c.1780G>T (p.Val594Leu) c.1012G>T (p.Val338Leu) n.1132G>T c.1714G>T (p.Val572Leu) | |
| X | g.53405624C>G | CA413253180 | SMC1A | c.1780G>C (p.Val594Leu) c.1012G>C (p.Val338Leu) n.1132G>C c.1714G>C (p.Val572Leu) | |
| X | g.53405624C>T | CA413253182 | SMC1A | c.1780G>A (p.Val594Met) c.1012G>A (p.Val338Met) n.1132G>A c.1714G>A (p.Val572Met) | |
| X | g.53405625T>A | CA516688290 | SMC1A | c.1779A>T (p.Leu593=) c.1011A>T (p.Leu337=) n.1131A>T c.1713A>T (p.Leu571=) | |
| X | g.53405625T>C | CA516688292 | SMC1A | c.1779A>G (p.Leu593=) c.1011A>G (p.Leu337=) n.1131A>G c.1713A>G (p.Leu571=) | gnomAD v4 |
| X | g.53405625T>G | CA516688293 | SMC1A | c.1779A>C (p.Leu593=) c.1011A>C (p.Leu337=) n.1131A>C c.1713A>C (p.Leu571=) | |
| X | g.53405626A>C | CA413253187 | SMC1A | c.1778T>G (p.Leu593Arg) c.1010T>G (p.Leu337Arg) n.1130T>G c.1712T>G (p.Leu571Arg) | |
| X | g.53405626A>G | CA413253184 | SMC1A | c.1778T>C (p.Leu593Pro) c.1010T>C (p.Leu337Pro) n.1130T>C c.1712T>C (p.Leu571Pro) | |
| X | g.53405626A>T | CA413253185 | SMC1A | c.1778T>A (p.Leu593Gln) c.1010T>A (p.Leu337Gln) n.1130T>A c.1712T>A (p.Leu571Gln) | |
| X | g.53405627G>A | CA516688295 | SMC1A | c.1777C>T (p.Leu593=) c.1009C>T (p.Leu337=) n.1129C>T c.1711C>T (p.Leu571=) | |
| X | g.53405627G>C | CA413253189 | SMC1A | c.1777C>G (p.Leu593Val) c.1009C>G (p.Leu337Val) n.1129C>G c.1711C>G (p.Leu571Val) | |
| X | g.53405627G>T | CA413253191 | SMC1A | c.1777C>A (p.Leu593Ile) c.1009C>A (p.Leu337Ile) n.1129C>A c.1711C>A (p.Leu571Ile) | |
| X | g.53405628C>A | CA413253193 | SMC1A | c.1776G>T (p.Lys592Asn) c.1008G>T (p.Lys336Asn) n.1128G>T c.1710G>T (p.Lys570Asn) | |
| X | g.53405628C>G | CA413253195 | SMC1A | c.1776G>C (p.Lys592Asn) c.1008G>C (p.Lys336Asn) n.1128G>C c.1710G>C (p.Lys570Asn) | |
| X | g.53405628C>T | CA516688299 | SMC1A | c.1776G>A (p.Lys592=) c.1008G>A (p.Lys336=) n.1128G>A c.1710G>A (p.Lys570=) | |
| X | g.53405629T>A | CA413253197 | SMC1A | c.1775A>T (p.Lys592Met) c.1007A>T (p.Lys336Met) n.1127A>T c.1709A>T (p.Lys570Met) | |
| X | g.53405629T>C | CA413253199 | SMC1A | c.1775A>G (p.Lys592Arg) c.1007A>G (p.Lys336Arg) n.1127A>G c.1709A>G (p.Lys570Arg) | |
| X | g.53405629T>G | CA413253200 | SMC1A | c.1775A>C (p.Lys592Thr) c.1007A>C (p.Lys336Thr) n.1127A>C c.1709A>C (p.Lys570Thr) | |
| X | g.53405630T>A | CA413253203 | SMC1A | c.1774A>T (p.Lys592Ter) c.1006A>T (p.Lys336Ter) n.1126A>T c.1708A>T (p.Lys570Ter) | |
| X | g.53405630T>C | CA413253205 | SMC1A | c.1774A>G (p.Lys592Glu) c.1006A>G (p.Lys336Glu) n.1126A>G c.1708A>G (p.Lys570Glu) | |
| X | g.53405630T>G | CA413253206 | SMC1A | c.1774A>C (p.Lys592Gln) c.1006A>C (p.Lys336Gln) n.1126A>C c.1708A>C (p.Lys570Gln) | |
| X | g.53405631G>A | CA516688306 | SMC1A | c.1773C>T (p.Ala591=) c.1005C>T (p.Ala335=) n.1125C>T c.1707C>T (p.Ala569=) | |
| X | g.53405631G>C | CA516688305 | SMC1A | c.1773C>G (p.Ala591=) c.1005C>G (p.Ala335=) n.1125C>G c.1707C>G (p.Ala569=) | |
| X | g.53405631G>T | CA516688304 | SMC1A | c.1773C>A (p.Ala591=) c.1005C>A (p.Ala335=) n.1125C>A c.1707C>A (p.Ala569=) | |
| X | g.53405632G>A | CA413253211 | SMC1A | c.1772C>T (p.Ala591Val) c.1004C>T (p.Ala335Val) n.1124C>T c.1706C>T (p.Ala569Val) | gnomAD v4 |
| X | g.53405632G>C | CA413253212 | SMC1A | c.1772C>G (p.Ala591Gly) c.1004C>G (p.Ala335Gly) n.1124C>G c.1706C>G (p.Ala569Gly) | |
| X | g.53405632G>T | CA413253209 | SMC1A | c.1772C>A (p.Ala591Asp) c.1004C>A (p.Ala335Asp) n.1124C>A c.1706C>A (p.Ala569Asp) | |
| X | g.53405633C>A | CA413253216 | SMC1A | c.1771G>T (p.Ala591Ser) c.1003G>T (p.Ala335Ser) n.1123G>T c.1705G>T (p.Ala569Ser) | |
| X | g.53405633C= | CA2429825335 | SMC1A | c.1771G= (p.Ala591=) c.1003G= (p.Ala335=) n.1123G= c.1705G= (p.Ala569=) | |
| X | g.53405633C>G | CA10420519 | SMC1A | c.1771G>C (p.Ala591Pro) c.1003G>C (p.Ala335Pro) n.1123G>C c.1705G>C (p.Ala569Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53405633C>T | CA413253219 | SMC1A | c.1771G>A (p.Ala591Thr) c.1003G>A (p.Ala335Thr) n.1123G>A c.1705G>A (p.Ala569Thr) | |
| X | g.53405637dup | CA2820946892 | SMC1A | c.1771dup (p.Ala591GlyfsTer6) c.1003dup (p.Ala335GlyfsTer6) n.1123dup c.1705dup (p.Ala569GlyfsTer6) | |
| X | g.53405634C>A | CA516688307 | SMC1A | c.1770G>T (p.Gly590=) c.1002G>T (p.Gly334=) n.1122G>T c.1704G>T (p.Gly568=) | |
| X | g.53405634C>G | CA516688310 | SMC1A | c.1770G>C (p.Gly590=) c.1002G>C (p.Gly334=) n.1122G>C c.1704G>C (p.Gly568=) | |
| X | g.53405634C>T | CA516688309 | SMC1A | c.1770G>A (p.Gly590=) c.1002G>A (p.Gly334=) n.1122G>A c.1704G>A (p.Gly568=) | |
| X | g.53405635C>A | CA413253221 | SMC1A | c.1769G>T (p.Gly590Val) c.1001G>T (p.Gly334Val) n.1121G>T c.1703G>T (p.Gly568Val) | |
| X | g.53405635C>G | CA413253222 | SMC1A | c.1769G>C (p.Gly590Ala) c.1001G>C (p.Gly334Ala) n.1121G>C c.1703G>C (p.Gly568Ala) | |
| X | g.53405635C>T | CA413253224 | SMC1A | c.1769G>A (p.Gly590Glu) c.1001G>A (p.Gly334Glu) n.1121G>A c.1703G>A (p.Gly568Glu) | ClinVar |
| X | g.53405636C>A | CA413253226 | SMC1A | c.1768G>T (p.Gly590Trp) c.1000G>T (p.Gly334Trp) n.1120G>T c.1702G>T (p.Gly568Trp) | |
| X | g.53405636C>G | CA413253228 | SMC1A | c.1768G>C (p.Gly590Arg) c.1000G>C (p.Gly334Arg) n.1120G>C c.1702G>C (p.Gly568Arg) | |
| X | g.53405636C>T | CA413253229 | SMC1A | c.1768G>A (p.Gly590Arg) c.1000G>A (p.Gly334Arg) n.1120G>A c.1702G>A (p.Gly568Arg) | |
| X | g.53405637C>A | CA413253231 | SMC1A | c.1767G>T (p.Lys589Asn) c.999G>T (p.Lys333Asn) n.1119G>T c.1701G>T (p.Lys567Asn) | |
| X | g.53405637C>G | CA413253233 | SMC1A | c.1767G>C (p.Lys589Asn) c.999G>C (p.Lys333Asn) n.1119G>C c.1701G>C (p.Lys567Asn) | |
| X | g.53405637C>T | CA516688313 | SMC1A | c.1767G>A (p.Lys589=) c.999G>A (p.Lys333=) n.1119G>A c.1701G>A (p.Lys567=) | gnomAD v4 |
| X | g.53405638T>A | CA413253238 | SMC1A | c.1766A>T (p.Lys589Met) c.998A>T (p.Lys333Met) n.1118A>T c.1700A>T (p.Lys567Met) | |
| X | g.53405638T>C | CA413253237 | SMC1A | c.1766A>G (p.Lys589Arg) c.998A>G (p.Lys333Arg) n.1118A>G c.1700A>G (p.Lys567Arg) | |
| X | g.53405638T>G | CA413253235 | SMC1A | c.1766A>C (p.Lys589Thr) c.998A>C (p.Lys333Thr) n.1118A>C c.1700A>C (p.Lys567Thr) | |
| X | g.53405639T>A | CA413253240 | SMC1A | c.1765A>T (p.Lys589Ter) c.997A>T (p.Lys333Ter) n.1117A>T c.1699A>T (p.Lys567Ter) | |
| X | g.53405639T>C | CA413253242 | SMC1A | c.1765A>G (p.Lys589Glu) c.997A>G (p.Lys333Glu) n.1117A>G c.1699A>G (p.Lys567Glu) | |
| X | g.53405639T>G | CA413253243 | SMC1A | c.1765A>C (p.Lys589Gln) c.997A>C (p.Lys333Gln) n.1117A>C c.1699A>C (p.Lys567Gln) | |
| X | g.53405640C>A | CA516688316 | SMC1A | c.1764G>T (p.Leu588=) c.996G>T (p.Leu332=) n.1116G>T c.1698G>T (p.Leu566=) | |
| X | g.53405640C>G | CA516688318 | SMC1A | c.1764G>C (p.Leu588=) c.996G>C (p.Leu332=) n.1116G>C c.1698G>C (p.Leu566=) | |
| X | g.53405640C>T | CA516688319 | SMC1A | c.1764G>A (p.Leu588=) c.996G>A (p.Leu332=) n.1116G>A c.1698G>A (p.Leu566=) | |
| X | g.53405641A>C | CA413253245 | SMC1A | c.1763T>G (p.Leu588Arg) c.995T>G (p.Leu332Arg) n.1115T>G c.1697T>G (p.Leu566Arg) | |
| X | g.53405641A>G | CA413253247 | SMC1A | c.1763T>C (p.Leu588Pro) c.995T>C (p.Leu332Pro) n.1115T>C c.1697T>C (p.Leu566Pro) | |
| X | g.53405641A>T | CA413253249 | SMC1A | c.1763T>A (p.Leu588Gln) c.995T>A (p.Leu332Gln) n.1115T>A c.1697T>A (p.Leu566Gln) | |
| X | g.53405642G>A | CA516688325 | SMC1A | c.1762C>T (p.Leu588=) c.994C>T (p.Leu332=) n.1114C>T c.1696C>T (p.Leu566=) | |
| X | g.53405642G>C | CA413253250 | SMC1A | c.1762C>G (p.Leu588Val) c.994C>G (p.Leu332Val) n.1114C>G c.1696C>G (p.Leu566Val) | |
| X | g.53405642G>T | CA413253252 | SMC1A | c.1762C>A (p.Leu588Met) c.994C>A (p.Leu332Met) n.1114C>A c.1696C>A (p.Leu566Met) | |
| X | g.53405643C>A | CA413253254 | SMC1A | c.1761G>T (p.Glu587Asp) c.993G>T (p.Glu331Asp) n.1113G>T c.1695G>T (p.Glu565Asp) | |
| X | g.53405643C>G | CA413253256 | SMC1A | c.1761G>C (p.Glu587Asp) c.993G>C (p.Glu331Asp) n.1113G>C c.1695G>C (p.Glu565Asp) | |
| X | g.53405643C>T | CA516688328 | SMC1A | c.1761G>A (p.Glu587=) c.993G>A (p.Glu331=) n.1113G>A c.1695G>A (p.Glu565=) | gnomAD v4 |
| X | g.53405644T>A | CA413253257 | SMC1A | c.1760A>T (p.Glu587Val) c.992A>T (p.Glu331Val) n.1112A>T c.1694A>T (p.Glu565Val) | |
| X | g.53405644T>C | CA413253258 | SMC1A | c.1760A>G (p.Glu587Gly) c.992A>G (p.Glu331Gly) n.1112A>G c.1694A>G (p.Glu565Gly) | |
| X | g.53405644T>G | CA413253260 | SMC1A | c.1760A>C (p.Glu587Ala) c.992A>C (p.Glu331Ala) n.1112A>C c.1694A>C (p.Glu565Ala) | |
| X | g.53405645C>A | CA413253264 | SMC1A | c.1759G>T (p.Glu587Ter) c.991G>T (p.Glu331Ter) n.1111G>T c.1693G>T (p.Glu565Ter) | |
| X | g.53405645C>G | CA413253265 | SMC1A | c.1759G>C (p.Glu587Gln) c.991G>C (p.Glu331Gln) n.1111G>C c.1693G>C (p.Glu565Gln) | |
| X | g.53405645C>T | CA413253262 | SMC1A | c.1759G>A (p.Glu587Lys) c.991G>A (p.Glu331Lys) n.1111G>A c.1693G>A (p.Glu565Lys) | |
| X | g.53405646C>A | CA10420520 | SMC1A | c.1758G>T (p.Arg586=) c.990G>T (p.Arg330=) n.1110G>T c.1692G>T (p.Arg564=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53405646C= | CA2429825336 | SMC1A | c.1758G= (p.Arg586=) c.990G= (p.Arg330=) n.1110G= c.1692G= (p.Arg564=) | |
| X | g.53405646C>G | CA516688331 | SMC1A | c.1758G>C (p.Arg586=) c.990G>C (p.Arg330=) n.1110G>C c.1692G>C (p.Arg564=) | |
| X | g.53405646C>T | CA516688332 | SMC1A | c.1758G>A (p.Arg586=) c.990G>A (p.Arg330=) n.1110G>A c.1692G>A (p.Arg564=) | |
| X | g.53405647C>A | CA413253268 | SMC1A | c.1757G>T (p.Arg586Leu) c.989G>T (p.Arg330Leu) n.1109G>T c.1691G>T (p.Arg564Leu) | |
| X | g.53405647C>G | CA413253270 | SMC1A | c.1757G>C (p.Arg586Pro) c.989G>C (p.Arg330Pro) n.1109G>C c.1691G>C (p.Arg564Pro) | |
| X | g.53405647C>T | CA413253271 | SMC1A | c.1757G>A (p.Arg586Gln) c.989G>A (p.Arg330Gln) n.1109G>A c.1691G>A (p.Arg564Gln) | COSMIC |
| X | g.53405648G>A | CA413253273 | SMC1A | c.1756C>T (p.Arg586Trp) c.988C>T (p.Arg330Trp) n.1108C>T c.1690C>T (p.Arg564Trp) | ClinVar dbSNP COSMIC |
| X | g.53405648G>C | CA413253274 | SMC1A | c.1756C>G (p.Arg586Gly) c.988C>G (p.Arg330Gly) n.1108C>G c.1690C>G (p.Arg564Gly) | |
| X | g.53405648G>T | CA516559496 | SMC1A | c.1756C>A (p.Arg586=) c.988C>A (p.Arg330=) n.1108C>A c.1690C>A (p.Arg564=) | |
| X | g.53405649G>A | CA516559497 | SMC1A | c.1755C>T (p.Leu585=) c.987C>T (p.Leu329=) n.1107C>T c.1689C>T (p.Leu563=) | |
| X | g.53405649G>C | CA516559498 | SMC1A | c.1755C>G (p.Leu585=) c.987C>G (p.Leu329=) n.1107C>G c.1689C>G (p.Leu563=) | |
| X | g.53405649G>T | CA516559499 | SMC1A | c.1755C>A (p.Leu585=) c.987C>A (p.Leu329=) n.1107C>A c.1689C>A (p.Leu563=) | |
| X | g.53405650A= | CA2429825337 | SMC1A | c.1754T= (p.Leu585=) c.986T= (p.Leu329=) n.1106T= c.1688T= (p.Leu563=) | |
| X | g.53405650A>C | CA413253276 | SMC1A | c.1754T>G (p.Leu585Arg) c.986T>G (p.Leu329Arg) n.1106T>G c.1688T>G (p.Leu563Arg) | |
| X | g.53405650A>G | CA272521 | SMC1A | c.1754T>C (p.Leu585Pro) c.986T>C (p.Leu329Pro) n.1106T>C c.1688T>C (p.Leu563Pro) | ClinVar dbSNP |
| X | g.53405650A>T | CA413253278 | SMC1A | c.1754T>A (p.Leu585His) c.986T>A (p.Leu329His) n.1106T>A c.1688T>A (p.Leu563His) | |
| X | g.53405651G>A | CA413253279 | SMC1A | c.1753C>T (p.Leu585Phe) c.985C>T (p.Leu329Phe) n.1105C>T c.1687C>T (p.Leu563Phe) | |
| X | g.53405651G>C | CA413253281 | SMC1A | c.1753C>G (p.Leu585Val) c.985C>G (p.Leu329Val) n.1105C>G c.1687C>G (p.Leu563Val) | |
| X | g.53405651G>T | CA413253282 | SMC1A | c.1753C>A (p.Leu585Ile) c.985C>A (p.Leu329Ile) n.1105C>A c.1687C>A (p.Leu563Ile) | |
| X | g.53405652T>A | CA413253284 | SMC1A | c.1752A>T (p.Lys584Asn) c.984A>T (p.Lys328Asn) n.1104A>T c.1686A>T (p.Lys562Asn) | |
| X | g.53405652T>C | CA516559500 | SMC1A | c.1752A>G (p.Lys584=) c.984A>G (p.Lys328=) n.1104A>G c.1686A>G (p.Lys562=) | |
| X | g.53405652T>G | CA413253285 | SMC1A | c.1752A>C (p.Lys584Asn) c.984A>C (p.Lys328Asn) n.1104A>C c.1686A>C (p.Lys562Asn) | |
| X | g.53405653T>A | CA413253287 | SMC1A | c.1751A>T (p.Lys584Ile) c.983A>T (p.Lys328Ile) n.1103A>T c.1685A>T (p.Lys562Ile) | |
| X | g.53405653T>C | CA413253291 | SMC1A | c.1751A>G (p.Lys584Arg) c.983A>G (p.Lys328Arg) n.1103A>G c.1685A>G (p.Lys562Arg) | |
| X | g.53405653T>G | CA413253289 | SMC1A | c.1751A>C (p.Lys584Thr) c.983A>C (p.Lys328Thr) n.1103A>C c.1685A>C (p.Lys562Thr) | |
| X | g.53405654T>A | CA413253292 | SMC1A | c.1750A>T (p.Lys584Ter) c.982A>T (p.Lys328Ter) n.1102A>T c.1684A>T (p.Lys562Ter) | |
| X | g.53405654T>C | CA413253294 | SMC1A | c.1750A>G (p.Lys584Glu) c.982A>G (p.Lys328Glu) n.1102A>G c.1684A>G (p.Lys562Glu) | |
| X | g.53405654T>G | CA413253295 | SMC1A | c.1750A>C (p.Lys584Gln) c.982A>C (p.Lys328Gln) n.1102A>C c.1684A>C (p.Lys562Gln) | |
| X | g.53405655C>A | CA413253297 | SMC1A | c.1749G>T (p.Glu583Asp) c.981G>T (p.Glu327Asp) n.1101G>T c.1683G>T (p.Glu561Asp) | |
| X | g.53405655C>G | CA413253299 | SMC1A | c.1749G>C (p.Glu583Asp) c.981G>C (p.Glu327Asp) n.1101G>C c.1683G>C (p.Glu561Asp) | |
| X | g.53405655C>T | CA516559501 | SMC1A | c.1749G>A (p.Glu583=) c.981G>A (p.Glu327=) n.1101G>A c.1683G>A (p.Glu561=) | |
| X | g.53405656T>A | CA413253300 | SMC1A | c.1748A>T (p.Glu583Val) c.980A>T (p.Glu327Val) n.1100A>T c.1682A>T (p.Glu561Val) | |
| X | g.53405656T>C | CA413253302 | SMC1A | c.1748A>G (p.Glu583Gly) c.980A>G (p.Glu327Gly) n.1100A>G c.1682A>G (p.Glu561Gly) | |
| X | g.53405656T>G | CA413253304 | SMC1A | c.1748A>C (p.Glu583Ala) c.980A>C (p.Glu327Ala) n.1100A>C c.1682A>C (p.Glu561Ala) | |
| X | g.53405659_53405671del | CA2695234316 | SMC1A | c.1736_1748del (p.Lys579ArgfsTer6) c.968_980del (p.Lys323ArgfsTer6) n.1088_1100del c.1670_1682del (p.Lys557ArgfsTer6) | |
| X | g.53405657C>A | CA413253305 | SMC1A | c.1747G>T (p.Glu583Ter) c.979G>T (p.Glu327Ter) n.1099G>T c.1681G>T (p.Glu561Ter) | |
| X | g.53405657C>G | CA413253306 | SMC1A | c.1747G>C (p.Glu583Gln) c.979G>C (p.Glu327Gln) n.1099G>C c.1681G>C (p.Glu561Gln) | |
| X | g.53405657C>T | CA413253307 | SMC1A | c.1747G>A (p.Glu583Lys) c.979G>A (p.Glu327Lys) n.1099G>A c.1681G>A (p.Glu561Lys) | |
| X | g.53405658A>C | CA413253311 | SMC1A | c.1746T>G (p.Asp582Glu) c.978T>G (p.Asp326Glu) n.1098T>G c.1680T>G (p.Asp560Glu) | gnomAD v4 |
| X | g.53405658A>G | CA516559502 | SMC1A | c.1746T>C (p.Asp582=) c.978T>C (p.Asp326=) n.1098T>C c.1680T>C (p.Asp560=) | |
| X | g.53405658A>T | CA413253309 | SMC1A | c.1746T>A (p.Asp582Glu) c.978T>A (p.Asp326Glu) n.1098T>A c.1680T>A (p.Asp560Glu) | |
| X | g.53405659T>A | CA413253312 | SMC1A | c.1745A>T (p.Asp582Val) c.977A>T (p.Asp326Val) n.1097A>T c.1679A>T (p.Asp560Val) | |
| X | g.53405659T>C | CA413253314 | SMC1A | c.1745A>G (p.Asp582Gly) c.977A>G (p.Asp326Gly) n.1097A>G c.1679A>G (p.Asp560Gly) | gnomAD v4 |
| X | g.53405659T>G | CA413253315 | SMC1A | c.1745A>C (p.Asp582Ala) c.977A>C (p.Asp326Ala) n.1097A>C c.1679A>C (p.Asp560Ala) | |
| X | g.53405660C>A | CA413253317 | SMC1A | c.1744G>T (p.Asp582Tyr) c.976G>T (p.Asp326Tyr) n.1096G>T c.1678G>T (p.Asp560Tyr) | COSMIC |
| X | g.53405660C>G | CA413253319 | SMC1A | c.1744G>C (p.Asp582His) c.976G>C (p.Asp326His) n.1096G>C c.1678G>C (p.Asp560His) | |
| X | g.53405660C>T | CA413253321 | SMC1A | c.1744G>A (p.Asp582Asn) c.976G>A (p.Asp326Asn) n.1096G>A c.1678G>A (p.Asp560Asn) | gnomAD v4 |
| X | g.53405661T>A | CA516559503 | SMC1A | c.1743A>T (p.Thr581=) c.975A>T (p.Thr325=) n.1095A>T c.1677A>T (p.Thr559=) | |
| X | g.53405661T>C | CA516559505 | SMC1A | c.1743A>G (p.Thr581=) c.975A>G (p.Thr325=) n.1095A>G c.1677A>G (p.Thr559=) | |
| X | g.53405661T>G | CA516559504 | SMC1A | c.1743A>C (p.Thr581=) c.975A>C (p.Thr325=) n.1095A>C c.1677A>C (p.Thr559=) | |
| X | g.53405662G>A | CA413253326 | SMC1A | c.1742C>T (p.Thr581Ile) c.974C>T (p.Thr325Ile) n.1094C>T c.1676C>T (p.Thr559Ile) | |
| X | g.53405662G>C | CA413253324 | SMC1A | c.1742C>G (p.Thr581Arg) c.974C>G (p.Thr325Arg) n.1094C>G c.1676C>G (p.Thr559Arg) | |
| X | g.53405662G>T | CA413253322 | SMC1A | c.1742C>A (p.Thr581Lys) c.974C>A (p.Thr325Lys) n.1094C>A c.1676C>A (p.Thr559Lys) | |
| X | g.53405663T>A | CA413253328 | SMC1A | c.1741A>T (p.Thr581Ser) c.973A>T (p.Thr325Ser) n.1093A>T c.1675A>T (p.Thr559Ser) | |
| X | g.53405663T>C | CA413253329 | SMC1A | c.1741A>G (p.Thr581Ala) c.973A>G (p.Thr325Ala) n.1093A>G c.1675A>G (p.Thr559Ala) | |
| X | g.53405663T>G | CA413253330 | SMC1A | c.1741A>C (p.Thr581Pro) c.973A>C (p.Thr325Pro) n.1093A>C c.1675A>C (p.Thr559Pro) | |
| X | g.53405664A>C | CA516559506 | SMC1A | c.1740T>G (p.Pro580=) c.972T>G (p.Pro324=) n.1092T>G c.1674T>G (p.Pro558=) | |
| X | g.53405664A>G | CA516559507 | SMC1A | c.1740T>C (p.Pro580=) c.972T>C (p.Pro324=) n.1092T>C c.1674T>C (p.Pro558=) | |
| X | g.53405664A>T | CA516559508 | SMC1A | c.1740T>A (p.Pro580=) c.972T>A (p.Pro324=) n.1092T>A c.1674T>A (p.Pro558=) | |
| X | g.53405665G>A | CA413253332 | SMC1A | c.1739C>T (p.Pro580Leu) c.971C>T (p.Pro324Leu) n.1091C>T c.1673C>T (p.Pro558Leu) | gnomAD v4 |
| X | g.53405665G>C | CA413253334 | SMC1A | c.1739C>G (p.Pro580Arg) c.971C>G (p.Pro324Arg) n.1091C>G c.1673C>G (p.Pro558Arg) | |
| X | g.53405665G>T | CA413253336 | SMC1A | c.1739C>A (p.Pro580His) c.971C>A (p.Pro324His) n.1091C>A c.1673C>A (p.Pro558His) |